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Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation
Assaf A Barg1,2, Rima Dardik3,4, Carina Levin5,6
1Israeli National Hemophilia Center and Thrombosis Unit and Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel, assaf.barg@sheba.health.gov.il.
Abstract:
Severe protein C deficiency due to biallelic PROC mutations is an extremely rare thrombophilia, most commonly presenting during the neonatal period as purpura fulminans. Despite treatment, severe morbidity and mortality are frequent. The current study reports 3 unrelated patients harboring novel homozygous PROC mutations and their clinical phenotypes. We discuss how the cytoprotective activity of protein C and its role in the stabilization of endothelial barriers may account for the unique symptoms of this thrombophilia.
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